GTR Home > Conditions/Phenotypes > Hypohidrotic X-linked ectodermal dysplasia

Disease characteristics

Excerpted from the GeneReview: Hypohidrotic Ectodermal Dysplasia
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow-growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, and at a later than average age. Physical growth and psychomotor development are otherwise within normal limits.

Associated genes

  • Also known as: RP11-351K23.1, ECTD1, ED1, ED1-A1, ED1-A2, EDA-A1, EDA-A2, EDA1, EDA2, HED, HED1, ODT1, STHAGX1, XHED, XLHED, EDA
    Summary: ectodysplasin A

Clinical features

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  • Fever
  • Conical tooth
  • Thin skin
  • Hypertension
  • Hypohidrosis
  • Dysphonia
  • Small chin
  • Prominent supraorbital ridges
  • Flat nose
  • Sparse eyelashes
  • Soft skin
  • Periorbital wrinkles
  • Periorbital hyperpigmentation
  • Hypoplastic-absent sebaceous glands
  • Aplasia/Hypoplastia of the eccrine sweat glands
  • Heat intolerance
  • Type I diabetes mellitus
  • Microdontia
  • Hypoplastic nipples
  • Delayed eruption of teeth
  • Dry skin
  • Everted lower lip vermilion
  • Hypoplasia of the maxilla
  • Underdeveloped nasal alae
  • Sparse eyebrow
  • Hypodontia
  • Taurodontia
  • Anterior hypopituitarism
  • Eczema
  • Anhidrosis
  • Hypotrichosis
  • Concave nail
  • Hoarse voice
  • Frontal bossing
  • Absent eyebrow
  • Brittle hair
  • Absent nipples
  • Respiratory difficulties
  • Short nose
  • Depressed nasal bridge
  • Short distal phalanx of finger
  • Everted upper lip vermilion
  • Abnormal hair quantity
  • Abnormality of oral mucosa
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